✦ LIBER ✦

Costello syndrome: Report and review

✍ Scribed by van Eeghen, Agnies M.; van Gelderen, Ietje; Hennekam, Raoul C.M.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 29 KB
Volume: 82
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990115)82:2<187::aid-ajmg17>3.0.co;2-2

No coin nor oath required. For personal study only.

✦ Synopsis

We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a ''coarse'' face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome. Lacking papillomata, she had wartlike lesions of the skin. The previously reported patients with Costello syndrome are reviewed. Costello syndrome is probably an autosomal dominant disorder, either caused by a mutation in a single gene or by microdeletion. Am.

📜 SIMILAR VOLUMES

CHARGE syndrome: Report of 47 cases and

CHARGE syndrome: Report of 47 cases and review

✍ Tellier, A.L.; Cormier-Daire, V.; Abadie, V.; Amiel, J.; Sigaudy, S.; Bonnet, D. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB 👁 2 views

The acronym CHARGE refers to a syndrome of unknown cause. Here we report on 47 CHARGE patients evaluated for the frequency of major anomalies, namely coloboma (79%), heart malformation (85%), choanal atresia (57%), growth and/or mental retardation (100%), genital anomalies (34%), ear anomalies (91%)

The syndromes of Sotos and Weaver: Repor

The syndromes of Sotos and Weaver: Reports and review

✍ Opitz, John M.; Weaver, David W.; Reynolds, James F. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 83 KB 👁 1 views

The syndromes of Sotos and Weaver are paradigmatic of the daily nosologic difficulties faced by clinical geneticists attempting to diagnose and counsel, and to give accurate prognoses in cases of extensive phenotypic overlap between molecularly undefined entities. Vertebrate development is constrain

Feingold syndrome: Report of a new famil

Feingold syndrome: Report of a new family and review

✍ Courtens, W.; Levi, S.; Verbelen, F.; Verloes, A.; Vamos, E. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 2 views

Feingold syndrome (or oculodigitoesophagoduodenal syndrome; Microcephaly, Mesobrachyphalangy, Tracheo-esophageal fistula syndrome) is a dominantly inherited combination of hand and foot abnormalities, microcephaly, esophageal/duodenal atresia, short palpebral fissures and learning disabilities, firs

Restrictive dermopathy: Report and revie

Restrictive dermopathy: Report and review

✍ Mau, Ulrike; Kendziorra, Heidemarie; Kaiser, Peter; Enders, and Herbert 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 61 KB

Restrictive dermopathy (RD) is a lethal autosomal recessive genodermatosis (MIM No. 275210) in which tautness of the skin causes fetal akinesia or hypokinesia deformation sequence (FADS). Polyhydramnios with reduced fetal movements is followed by premature delivery at around 31 weeks gestation. Mani

Bladder carcinoma in Costello syndrome:

Bladder carcinoma in Costello syndrome: Report on a patient born to consanguineous parents and review

✍ Franceschini, P.; Licata, D.; Di Cara, G.; Guala, A.; Bianchi, M.; Ingrosso, G.; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 56 KB

We report on a 12-year-old boy with Costello syndrome born to consanguineous (first cousins once removed) parents, supporting the hypothesis of recessive transmission of this syndrome. At age 11 years, the patient developed a bladder carcinoma, a rare pediatric tumor not previously described in Cost

Splenogonadal fusion limb defect syndrom

Splenogonadal fusion limb defect syndrome: Report of five new cases and review

✍ Bonneau, Dominique; Roume, Joelle; Gonzalez, Marie; Toutain, Annick; Carles, Dom 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 121 KB

Splenogonadal fusion (SGF) is a rare congenital malformation in which the spleen is abnormally connected to the gonad. SGF may occur as an isolated condition or may be associated with other malformations, especially with terminal limb defects in what is called splenogonadal fusion limb defect (SGFLD